ClinVar Miner

List of variants reported as uncertain significance for Charcot-Marie-Tooth disease, type 1C by Illumina Clinical Services Laboratory,Illumina

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Total variants: 34
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HGVS dbSNP
NM_001136473.1(LITAF):c.*1007G>A rs535657236
NM_001136473.1(LITAF):c.*1074A>G rs886051649
NM_001136473.1(LITAF):c.*116G>A rs371453151
NM_001136473.1(LITAF):c.*1179A>C
NM_001136473.1(LITAF):c.*1295A>G rs886051648
NM_001136473.1(LITAF):c.*1342A>C
NM_001136473.1(LITAF):c.*1489A>C
NM_001136473.1(LITAF):c.*1511G>A
NM_001136473.1(LITAF):c.*1524C>A
NM_001136473.1(LITAF):c.*1547A>G
NM_001136473.1(LITAF):c.*1561T>G
NM_001136473.1(LITAF):c.*158G>A
NM_001136473.1(LITAF):c.*1682C>A rs886051647
NM_001136473.1(LITAF):c.*2004A>G
NM_001136473.1(LITAF):c.*25C>T rs201512884
NM_001136473.1(LITAF):c.*318G>A rs886051652
NM_001136473.1(LITAF):c.*359C>A
NM_001136473.1(LITAF):c.*419A>T rs886051651
NM_001136473.1(LITAF):c.*625A>G
NM_001136473.1(LITAF):c.*688A>C
NM_001136473.1(LITAF):c.*723G>A rs367546754
NM_001136473.1(LITAF):c.*848A>G rs886051650
NM_001136473.1(LITAF):c.*96G>A rs543022814
NM_001136473.1(LITAF):c.-6+513G>C
NM_001136473.1(LITAF):c.-6+539G>A rs545189325
NM_001136473.1(LITAF):c.-6+618C>G
NM_001136473.1(LITAF):c.-6+657C>A rs374282727
NM_001136473.1(LITAF):c.100C>A (p.Pro34Thr) rs759905004
NM_001136473.1(LITAF):c.146C>T (p.Thr49Met) rs141862602
NM_001136473.1(LITAF):c.158G>C (p.Gly53Ala) rs886051654
NM_001136473.1(LITAF):c.159G>A (p.Gly53=) rs886051653
NM_001136473.1(LITAF):c.310G>A (p.Val104Met) rs373445989
NM_001136473.1(LITAF):c.368G>A (p.Cys123Tyr)
NM_001136473.1(LITAF):c.88A>T (p.Asn30Tyr) rs368574479

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